The Diagnostic Yield of Genomic Sequencing-Based Genetic Kidney Disease Testing in Kidney Transplant Candidates: Experience at an Urban US Transplant Center.

Background: Recent studies suggest that approximately 10% of patients with chronic kidney disease (CKD) have disease-causing genetic variants, an observation relevant to evaluation of kidney transplant candidates.

Methods: We retrospectively investigated the diagnostic yield of genetic testing in kidney transplant candidates evaluated at our program (January 1, 2021-December 8, 2022). Inclusion criteria were as follows: first-degree relative(s) with CKD/end-stage kidney disease (ESKD), early-onset CKD, focal segmental glomerulosclerosis, cystic kidney disease, alternative complement pathway-associated diseases, or ESKD of unknown cause.

Teletraining to Teach Communication Partners to Support Students With Multiple Disabilities Including Cortical Visual Impairment and Emerging Symbolic Communication in Communicating Choices.

Purpose: The purpose of the current study was to investigate the impact of a teletraining to teach adult communication partners the "Communicating Choices-Cortical Visual Impairment (CVI)" strategy to support participation for students with multiple disabilities.

Method: A nonconcurrent, multiple-probe, across-participants design was implemented with four adult communication partner (i.e.

Like Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.

Constitutional platelet disorders have become better understood since Bernard and Soulier first described a case in 1948. Their diagnosis can also be challenging due to overlap in clinical presentation and lab findings with platelet type von Willebrand. Bernard-Soulier syndrome is a disorder caused by GPIb receptor mutations that decrease its affinity for von Willebrand factor resulting in reduced platelet function and macrothrombocytopenia.

Understanding Length of Stay in Recovery Homes.

Abstinence-specific social support within dyadic relationships is one of the best post-treatment prognostic indicators of recovery and is probably responsible for much of the effectiveness of self-help group participation. Acute treatment after-care in the form of sober-living environments-i.e.

Exploring the communication access and participation of a young adult with autism spectrum disorder with limited speech and inpatient nursing staff.

This study aimed to describe the nature of interactions between health care professionals and a young adult with autism spectrum disorder with limited speech during an inpatient stay. An observational study was conducted to describe the interactions between a young adult on the autism spectrum and 14 of his inpatient health care providers. Naturalistic video-recordings were taken, and behavioral coding was completed to measure the frequency and type of communication turns taken.